Advances in treatment of cystic fibrosis (CF) have increased survival and thereby prevalence of patients with liver disease, making chronic liver disease one of the major complications of CF. We describe the prevalence of liver fibrosis, portal hypertension, and liver decompensation by extended screening for cystic fibrosis-related liver disease (CFLD) including ultrasound, elastography, and an extended panel of biochemical markers.
A cross sectional study of CFLD in all pediatric CF patients (1-18 years) from the Copenhagen CF Center. Screening for liver disease included physical examination, biochemical analysis, Vibration-Controlled Transient Elastography (FibroScan), conventional ultrasound, and Real-Time Shear Wave elastography (SWE). Patients were scored according to Williams ultrasound scoring scale (WUSS) within 6 months.
A total of 84 consecutive patients (male sex 46.4%, median age 10.4 years) were included. Eight patients (9.5%) had both ?2 abnormal results of sonographic methods and ?2 abnormal biochemical results and were in this study categorized as having manifest CFLD. Manifest CFLD patients were significantly older and had a higher mean value of APRI, but no differences in gender, z-height, z-weight, z-BMI, FEV1%, or mean value of bilirubin or albumin were found.
In total, 8 patients (9.5%) in this pediatric CF population were categorized as having CFLD according to both biochemical and sonographic tests. Consistency was found among the results of FibroScan and SWE. We suggest WUSS and either FibroScan or SWE, combined with GGT as diagnostic markers for CFLD.
In total, 8 patients (9.5%) in this pediatric CF population were categorized as having CFLD according to both biochemical and sonographic tests. Consistency was found among the results of FibroScan and SWE. We suggest WUSS and either FibroScan or SWE, combined with GGT as diagnostic markers for CFLD.The aim of the study was to explore the significance of sodium taurocholate cotransporting polypeptide (NTCP) deficiency and its clinical features in Chinese children presenting with isolated persistent hypercholanemia.
The exon and adjacent regions of SLC10A1, the gene encoding NTCP, were sequenced in 33 Chinese children presenting with isolated hypercholanemia. Clinical history and medical data were reviewed. Growth milestones were compared with the national standard. https://www.selleckchem.com/products/mk571.html The serum direct bilirubin concentration at last follow-up was compared with age- and sex-matched controls.
A variant, c.800C&gt;T, p. S267F of SLC10A1 was detected in all subjects; 30 patients were homozygotes and 3 were compound heterozygotes. Nine patients presented with transient neonatal cholestasis, and 1 with a persistent mild conjugated hyperbilirubinemia. The serum direct bilirubin level in NTCP-deficient patients was significantly higher than age- and sex-matched controls even after the neonatal cholestasis stage (2.85?±?1.50 vs 1.49?±?0.70?μmol/L, P?=?0.00008). No growth delay or other severe long-term clinical consequences were observed.
NTCP deficiency is the exclusive or major cause of isolated hypercholanemia in Han Chinese children, with c.800C&gt;T the major contributing genetic variation. The defect may affect bilirubin metabolism and present as transient neonatal cholestasis and/or persistent mild conjugated hyperbilirubinmia, but with no apparent long-term clinical consequences.
T the major contributing genetic variation. The defect may affect bilirubin metabolism and present as transient neonatal cholestasis and/or persistent mild conjugated hyperbilirubinmia, but with no apparent long-term clinical consequences.Ophthalmic abnormalities are amongst the 5 major criteria required for a diagnosis of Alagille syndrome (ALGS), of which embryotoxon, pseudopapilledema, and hypopigmented retinopathy are the most common. Papilledema with or without intracranial hypertension (ICHT) is rarely described. We report 9 pediatric cases of ALGS with bilateral papilledema, 5 of which were diagnosed with ICHT.
The ophthalmic data from 85 patients with clinically and/or genetically (n?=?37) proven ALGS were reviewed. The study inclusion criteria were a positive diagnosis of ALGS and availability of ophthalmic follow-up data. Ophthalmic data from 40 patients after liver transplantation (LT) for other indications were also analyzed.
Nine (13.0%) of the 69 patients meeting the inclusion criteria had papilledema. The neurological and neuroimaging results in all 9 patients were normal. These 9 patients were categorized into 4 groups a nontransplant group (n?=?1), a group with pretransplant papilledema persistent after LT (n?=?2), a group with papilledema occurring after LT with spontaneous resolution (n?=?1), and a group with papilledema and signs of ICHT after LT (n?=?5). The patients with ICHT were treated with steroids alone (n?=?1) or with acetazolamide (n?=?4). A ventriculoperitoneal shunt was placed in 2 of the 5 cases because of progressive visual loss. Pseudopapilledema was present in 10 additional patients (14.5%, 10/69). One (2.5%) of the 40 patients without ALGS developed papilledema after LT.
True ICHT may be underdiagnosed in patients with ALGS. Our findings underscore the need for close ophthalmic follow-up before and after LT in these patients.
True ICHT may be underdiagnosed in patients with ALGS. Our findings underscore the need for close ophthalmic follow-up before and after LT in these patients.Chronic cholestatic liver diseases are often associated with disturbed lipid metabolism, which may potentially increase cardiovascular (CV) risk but the evidence is scarce. The aim of the study was to assess factors associated with increased CV risk in children with Alagille syndrome (AGS) and biliary atresia (BA).
We investigated 17 patients with AGS, ages 11.0 years (8.4-13.4) and 19 with BA, ages 13.5 years (10.4-15.1) in whom we performed thorough biochemical assessment including lipid profiles and oxidative stress biomarkers, blood pressure (BP)-systolic, diastolic and mean, carotid intima-media thickness (cIMT), and pulse wave velocity (PWV).
There were abnormal lipid profiles in 82% of children with AGS and 52.6% with BA. In AGS group, we observed significantly higher levels of TC, LDL C, APO B, lower glutathione concentration and glutathione peroxidase activity and lower blood pressure, lower cIMT (P?=?0.02), cIMT-SDS (P?=?0.04), and PWV (P?=?0.04). We, however, observed elevated blood pressure in 2/19 patients with BA and none-with AGS (BA vs AGS P?=?0.